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  • Title: [Familial ectodermal dysplasia with agenesis of the breasts and the external urethral sphincter. Description of a case].
    Author: Triolo O, Allegra A, Stella Brienza L, De Meo A, Tropea G.
    Journal: Minerva Ginecol; 1993 Mar; 45(3):139-42. PubMed ID: 8332280.
    Abstract:
    The Authors report a case of athelia and amastia observed in a 28-year-old woman. The association of severe dental alterations, nail dystrophies and irregular cutaneous hyperpigmentation with normal sweating, make it possible to catalogue the anomaly in the hydrotic ectodermal dysplasia, an autosomal dominant hereditary disease. The syndrome, transmitted by the father, is also present in two brothers of the patient: the association of sphincter urethrae agenesis, responsible for urinary incontinence unsuccessful treated with two surgical operations, is to be considered quite fortuitous.
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